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    SERINC2 serine incorporator 2 [ Homo sapiens (human) ]

    Gene ID: 347735, updated on 27-Nov-2024

    Summary

    Official Symbol
    SERINC2provided by HGNC
    Official Full Name
    serine incorporator 2provided by HGNC
    Primary source
    HGNC:HGNC:23231
    See related
    Ensembl:ENSG00000168528 MIM:614549; AllianceGenome:HGNC:23231
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TDE2; TDE2L; FKSG84; PRO0899
    Summary
    Predicted to be involved in phosphatidylserine metabolic process; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity; and positive regulation of serine C-palmitoyltransferase activity. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in urinary bladder (RPKM 35.4), colon (RPKM 35.3) and 17 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SERINC2 in Genome Data Viewer
    Location:
    1p35.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (31409777..31434678)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (31262102..31291896)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (31882624..31907525)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903892 Neighboring gene Sharpr-MPRA regulatory region 3310 Neighboring gene uncharacterized LOC105378623 Neighboring gene Sharpr-MPRA regulatory region 2178 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:31885808-31886308 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31887579-31888127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31897069-31897630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:31897631-31898192 Neighboring gene uncharacterized LOC124903900 Neighboring gene MS1 minisatellite repeat instability region Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:31907359-31908163 Neighboring gene uncharacterized LOC105378625 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31926120-31927319 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31943609-31944808 Neighboring gene uncharacterized LOC105379772

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    NKAIN1-SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC90340

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    serine incorporator 2
    Names
    tumor differentially expressed protein 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001199037.2NP_001185966.1  serine incorporator 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon compared to variant 1. The resulting isoform (3) has a longer and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC114494, AK298512, BC007375, BC084580, BM924335, DC363849
      Consensus CDS
      CCDS55584.1
      Related
      ENSP00000444307.1, ENST00000536859.5
      Conserved Domains (1) summary
      pfam03348
      Location:21457
      Serinc; Serine incorporator (Serinc)
    2. NM_001199038.2NP_001185967.1  serine incorporator 2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate 5' sequence compared to variant 1. The resulting isoform (4) has a longer and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK127659, BC007375, BC084580, BM924335
      Consensus CDS
      CCDS55583.1
      Related
      ENSP00000362814.1, ENST00000373710.5
      Conserved Domains (1) summary
      pfam03348
      Location:26462
      Serinc; Serine incorporator (Serinc)
    3. NM_001199039.2NP_001185968.1  serine incorporator 2 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate 5' exon, resulting in a downstream AUG start codon, compared to variant 1. The resulting isoform (5) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AC114494, AK093784, BC007375, BC084580
      Related
      ENST00000491976.1
      Conserved Domains (1) summary
      pfam03348
      Location:1398
      Serinc; Serine incorporator (Serinc)
    4. NM_018565.4NP_061035.2  serine incorporator 2 isoform 2

      See identical proteins and their annotated locations for NP_061035.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon compared to variant 1. The resulting isoform (2) has a longer and distinct N-terminus, as compared to isoform 1.
      Source sequence(s)
      AK316357, BC007375, BC084580, BM924335
      Consensus CDS
      CCDS55585.1
      Related
      ENSP00000439048.1, ENST00000536384.2
      Conserved Domains (1) summary
      pfam03348
      Location:21457
      Serinc; Serine incorporator (Serinc)
    5. NM_178865.5NP_849196.2  serine incorporator 2 isoform 1

      See identical proteins and their annotated locations for NP_849196.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is a predominant transcript and encodes isoform (1).
      Source sequence(s)
      AK127659, AY094595, BC007375, BC084580, BM924335
      Consensus CDS
      CCDS30662.1
      UniProtKB/Swiss-Prot
      A0AVB4, B4DJK5, B7Z567, B7ZAP2, E7EUZ9, Q86Y23, Q96SA4
      Related
      ENSP00000362813.3, ENST00000373709.8
      Conserved Domains (1) summary
      pfam03348
      Location:17453
      Serinc; Serine incorporator (Serinc)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      31409777..31434678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      31262102..31291896
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)